Rare Disease

New research published in JAMA reports that lonafarnib, a farnesyltransferase inhibitor (FTI), extended survival in patients with Hutchinson-Gilford progeria syndrome (HGPS), or progeria.

Aimee Tharaldson, PharmD, a senior clinical consultant in Emerging Therapeutics for Express Scripts, discusses specialty drugs that have recently been approved, and which we will likely see approved in the remainder of the year.

Huntington disease (HD) is an incurable, inherited neurological disorder caused by the mutant Huntingtin gene, which produces a mutant form of Huntingtin protein (mHTT). In addition to creating the profound neurological impacts of HD, the mHTT protein also impairs other organ systems, and new research, published in Cell Reports, suggests that the protein may play a role in cardiac-related mortality in patients with HD.

Rare disease can significantly reduce patients’ quality of life, and the use of patient-reported outcome measures (PROMs) can be key to helping researchers understand how diseases and treatments impact quality of life and symptoms, according to a review newly published in the Orphanet Journal of Rare Diseases.

Drug company bluebird bio, Inc, has announced the publication of positive interim data for its gene therapy to eliminate or reduce chronic blood transfusions in patients with transfusion-dependent β-thalassemia.

The FDA’s Peripheral and Central Nervous System Drugs Advisory Committee has unanimously recommended approval of the New Drug Application for GW Pharmaceuticals’ proposed cannabidiol oral solution for the adjunctive treatment of seizures associated with 2 rare disorders, Lennox-Gastaut syndrome and Dravet syndrome, in patients 2 years and older.

Taking the rebates that it expects to negotiate into consideration, Ultragenyx said that burosumab will cost approximately $160,000 per patient per year for children and $200,000 per patient per year for adults, depending on body weight. The company said that it does not plan to increase costs in the early years of the drug’s availability.

Pfizer has dosed its first patient in a phase 1 clinical trial of an investigational gene therapy for the treatment of patients with Duchenne muscular dystrophy, a genetic disease that results in the absence of dystrophin, a protein that helps to keep muscle cells intact.

National Institutes of Health researchers have uncovered a genetic basis of a rare bone disease known as melorheostosis and said the discovery could offer potential treatment targets, provide clues about bone development, and lead to insights about fracture healing and osteoporosis.

Sancilio Pharmaceuticals announced that it has received the European Medicines Agency’s Orphan Designation for its SC411 (which it plans to market as Altemia), a proposed treatment for sickle cell disease in pediatric patients, in the European Union. The FDA granted the proposed drug a similar designation—the Rare Pediatric Disease designation—in 2017.

Results of a double-blind, randomized, phase 3 trial, published last week in The Lancet, show that siponimod—a selective sphingosine 1-phosphate receptor modulator—slowed the progression of disability in secondary progressive multiple sclerosis.

Uptake for the human papillomavirus (HPV) vaccination has never reached CDC targets. Minority children from lower-income households are more likely to get the vaccination than white children from higher-income households, according to the study author.

Recently, the Institute for Clinical and Economic Review (ICER) released an evidence report that investigated the comparative clinical effectiveness and value of emicizumab (marketed as Hemlibra, developed by Genentech) in the treatment of hemophilia A.

Currently, the FDA is evaluating 2 investigational drugs, both of which treat the underlying pathophysiology of hereditary transthyretin amyloidosis.

Sanofi–Regeron's offer to cut prices if payers improve access comes on the heels of the FDA Commissioner's critique of the "Kabuki" constructs that harm the sickest patients.

In Canada, there exists no distinct regulatory or reimbursement pathway for orphan drugs. Instead, these products undergo the same review processes as any other drug. When a medicine is submitted for review, the Common Drug Review examines the clinical and economic evidence, and its expert committee issues a nonbinding positive or negative recommendation for listing on publicly funded drug plans.

Proprietary technology helps overcome the problem of long travel distances for those taking part in clinical trials.

During a discussion, 4 panelists addressed their main issues of growing up with rare diseases, including that physicians often doubted their feelings of pain and distress.

Researchers have identified a molecular target that could allow chimeric antigen receptor (CAR) T-cell therapy to be used in treating patients with glioblastoma. Although the heterogeneous expression of tumor-associated antigens limits the efficacy for CAR-redirected T cells for the treatment of glioblastoma, chondroitin sulfate proteoglycan 4 (CSPG4), a cell surface type 1 transmembrane protein, is highly expressed in a majority of glioblastoma specimens with limited heterogeneity.

Kazia Therapeutics Limited, an oncology-focused biotechnology company, announced on Friday that it has received the FDA’s Orphan Drug Designation for its investigational drug, GDC-0084, for the treatment of glioblastoma multiforme, the most aggressive form of primary brain cancer.

Drug maker Vertex has announced that the FDA has approved tezacaftor/ivacaftor and ivacaftor (Symdeko) for the treatment of the underlying cause of cystic fibrosis (CF) in patients aged 12 or older who have 2 copies of the F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, or who have at least 1 genetic mutation that is responsive to treatment with tezacaftor/ivacaftor.

Merkel cell carcinoma (MCC) is a rare disease, but it's getting less rare. Study results presented at the American Academy of Dermatology 2018 Annual Meeting found that cases of MCC increased 95% between 2000 and 2013

Fibrocell Science has submitted an Investigational New Drug Application (IND) with the FDA for a gene therapy candidate to treat moderate to severe localized scleroderma.

Biotechnology company Avrobio has completed a $60 million Series B financing to advance multiple gene therapies, including AVR-RD-01, a proposed single-dose lentiviral gene therapy for Fabry disease (FD).

Only 5% of rare diseases have treatments, but approximately half have patient advocacy organizations; these groups have the potential to play major roles in positively influencing research and development of drugs, clinical trials, and regulations by championing funding and awareness efforts, forming connections between experts and drug developers, advocating for changes to regulation to expedite research, facilitating patient registries, or other initiatives.